Results 111 to 120 of about 66,726 (167)

Detection of deafness-causing mutations in the Greek mitochondrial genome

, 2011
Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus.
Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Kandiloros, Dimitrios, Ferekidou, Elisabeth, Korres, Stavros, Korres, George S.   +6 more
core  

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy. [PDF]

JIMD Rep, 2020
Justine Perrin R, Rousset-Rouvière C, Garaix F, Cano A, Conrath J, Boyer O, Tsimaratos M.   +6 more
europepmc   +1 more source

Sensorineural deafness in two infants: A novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes

, 2004
Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. cardinal signs in trisomies 22 subtypes: Distal trisomy 22 has been described in more than 15 individuals.
Gonzalez, J.R., Rivera, H., Ramirez, L., Valdez, L.L., Barajas-Barajas, L.O., Garcia-Garcia, C.   +5 more
core   +1 more source

Association of Bone Conduction Devices for Single-Sided Sensorineural Deafness With Quality of Life: A Systematic Review and Meta-analysis.

JAMA Otolaryngol Head Neck Surg, 2022
Hampton T, Milinis K, Whitehall E, Sharma S.   +3 more
europepmc   +1 more source

The Relationship Between Sickle Cell Disease and Sudden Onset Sensorineural Deafness. [PDF]

Cureus, 2020
Abdelmahmuod E, Yassin MA, Ahmed M, Ali E.   +3 more
europepmc   +1 more source

Decline in prevalence of congenital sensorineural deafness in Dalmatian dogs in the United Kingdom. [PDF]

J Vet Intern Med, 2020
Lewis T, Freeman J, De Risio L.
europepmc   +1 more source

[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people].

, 1998
International audienceFrom February 1996 to January 1997, 74 patients from 53 sibships underwent genetic counselling for sensorineural deafness at the Pasteur Hospital, Paris, France.
Garabédian, E, Petit, Christine, Marlin, S, Denoyelle, F   +3 more
core   +1 more source

Sensorineural deafness in a child with Prader-Willi Syndrome-A rare case report. [PDF]

J Family Med Prim Care
Saikrishna P, Tripathy SK, Medhagopal RG, Das S, Bharti B, Malik A.   +5 more
europepmc   +1 more source

Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family. [PDF]

Cureus
Alrasheed A, Alyabis N, Alrasheed SA, Alrasheed R.   +3 more
europepmc   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome. [PDF]

Am J Med Genet A
Meiss LN, Karam AV, Shalen J, Tunkel DE, Yi BY, Guthrie KS, Kudalkar EM, Patrick AE, Rasmussen SA.   +8 more
europepmc   +1 more source